Publications by authors named "Mustafa A Salih"

98Publications

The clinical, histologic, and genotypic spectrum of -related myopathy: A case series.

Neurology 2020 09 13;95(11):e1512-e1527. Epub 2020 Aug 13.

From the Basic and Translational Myology Lab (R.N.V.-Q., V.G., A.F.), UMR8251, Université de Paris/CNRS; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France (R.N.V.-Q., B. Eymard, N.B.R., A.F.) and Neuromuscular Morphology Unit (N.B.R., M.F.), Institut de Myologie, Pitié-Salpêtrière Hospital, AP-HP, Paris, France; Department of Paediatric Neurology (M.v.d.H.), Medinzinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Germany; AP-HP (C.M., P.R.), Centre de Génétique Moléculaire et Chromosomique, UF Cardiogénétique et Myogénétique Moléculaire et Cellulaire, GH Pitié-Salpêtrière, Paris; Department of Neurology (V.G.), University Hospital of Montpellier, France; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Unit of Neuromuscular and Neurodegenerative Disorders (E.B.), Bambino Gesu' Children's Research Hospital, Rome, Italy; Departamento de Neurología Pediátrica (C.C.), Clínica Las Condes, Santiago, Chile; Paediatrics Department (D.C.), Hôpital de Hautepierre, Strasbourg, France; Neuromuscular Unit (J.C.), Neuropaediatrics Department, Institut de Recerca Hospital Universitari Sant Joan de Deu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER) (J.C.), ISCIII; Department of Neurology (M.L.C.), Hospital Clínico San Carlos, Instituto de Investigación Sanitaria San Carlos; Department of Medicine (M.L.C.), Universidad Complutense de Madrid, Spain; Department of Neurology (M.d.V.), Amsterdam University Medical Centre, Amsterdam Neuroscience, the Netherlands; Department of Pediatric Neurology (I.D.), Necker Enfants Malades Hospital, Paris Descartes University, France; Department of Child Neurology (N.G.), University Hospitals Leuven, Belgium; Department of Pediatric Neurology (A.K.), Center for Chronically Sick Children, Institute of Cell Biology and Neurobiology, Charité-Universitätsmedizin Berlin, Germany; Department of Neuropediatrics (E.L.), CHRU de Tours, Université François Rabelais de Tours, UMR INSERM U1253, Tours, France; Department of Neuropediatrics (J.L.), University Children's Hospital of Basel (UKBB), Switzerland; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France (E.M.), Neurology Department, Raymond-Poincaré Hospital, AP-HP, Garches; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France (M.M.), Service de Neuropédiatrie, Hôpital Trousseau, Paris, France; Department of Biomedical and Neuromotor Sciences (L.M.), University of Bologna, Italy; Réanimation Médicale, Physiologie-Explorations Fonctionnelles et Centre d'Investigation Clinique, UMR 1429 (D.O.), INSERM-UMR, 1179, UVSQ (D.O.), and Neuromuscular Unit, Department of Pediatric Neurology, Intensive Care and Rehabilitation, AP-HP, UVSQ Paris Saclay (B. Estournet, S.Q.-R.), Hôpital Raymond Poincaré, Garches, France; Department of Neurology (U.R.), Medizinische Fakultät Carl Gustav Carus Technische Universität Dresden, German; Division of Pediatric Neurology, Department of Pediatrics (M.A.S.), College of Medicine, King Saud University, Riyadh, Saudi Arabia; Friedrich-Baur-Institut (B.S.-W.), Department of Neurology, Ludwig-Maximilians-University of Munich; Department of Pediatric Neurology (M.S.), University of Tübingen, Germany; The John Walton Muscular Dystrophy Research Centre (V.S.), Institute of Genetic Medicine, Newcastle University, Newcastle Hospitals NHS Foundation Trust, UK; Department of Child Neurology (H.T.), Hacettepe University, School of Medicine, Ankara, Turkey; Centre de Compétence Neuromusculaire (J.A.U.), Hôpital Marin, Hendaye, France; Department of Neurology (A.v.d.K.), Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, the Netherlands; Pediatrics and Adolescent Medicine, Division of Pediatric Neurology (E.W.), University Medical Center Göttingen, Georg-August University Göttingen, Germany; Neuromuscular and Neurogenetic Disorders of Childhood Section (C.G.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; and Department of Pediatric Neurology (U.S.), Developmental Neurology and Social Pediatrics, University of Essen, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000010327DOI Listing
September 2020

Broad beans () and the potential to protect from COVID-19 coronavirus infection.

Sudan J Paediatr 2020 ;20(1):10-12

Formerly Professor, Basic Medical Sciences Department, College of Medicine, King Fahad Medical City, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.24911/SJP.106-1585398078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7282436PMC
January 2020

Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15).

BMC Neurol 2020 May 25;20(1):207. Epub 2020 May 25.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, MBC: 03, P.O. Box 3354, Riyadh, 11211, Kingdom of Saudi Arabia.

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http://dx.doi.org/10.1186/s12883-020-01761-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7249383PMC
May 2020

The natural history of infantile neuroaxonal dystrophy.

Orphanet J Rare Dis 2020 05 1;15(1):109. Epub 2020 May 1.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1186/s13023-020-01355-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7193406PMC
May 2020

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.

Acta Neuropathol 2020 03 9;139(3):415-442. Epub 2019 Dec 9.

Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00401-019-02109-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7035241PMC
March 2020

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Authors:
Dorota Monies Mohammed Abouelhoda Mirna Assoum Nabil Moghrabi Rafiullah Rafiullah Naif Almontashiri Mohammed Alowain Hamad Alzaidan Moeen Alsayed Shazia Subhani Edward Cupler Maha Faden Amal Alhashem Alya Qari Aziza Chedrawi Hisham Aldhalaan Wesam Kurdi Sameena Khan Zuhair Rahbeeni Maha Alotaibi Ewa Goljan Hadeel Elbardisy Mohamed ElKalioby Zeeshan Shah Hibah Alruwaili Amal Jaafar Ranad Albar Asma Akilan Hamsa Tayeb Asma Tahir Mohammed Fawzy Mohammed Nasr Shaza Makki Abdullah Alfaifi Hanna Akleh Suad Yamani Dalal Bubshait Mohammed Mahnashi Talal Basha Afaf Alsagheir Musad Abu Khaled Khalid Alsaleem Maisoon Almugbel Manal Badawi Fahad Bashiri Saeed Bohlega Raashida Sulaiman Ehab Tous Syed Ahmed Talal Algoufi Hamoud Al-Mousa Emadia Alaki Susan Alhumaidi Hadeel Alghamdi Malak Alghamdi Ahmed Sahly Shapar Nahrir Ali Al-Ahmari Hisham Alkuraya Ali Almehaidib Mohammed Abanemai Fahad Alsohaibaini Bandar Alsaud Rand Arnaout Ghada M H Abdel-Salam Hasan Aldhekri Suzan AlKhater Khalid Alqadi Essam Alsabban Turki Alshareef Khalid Awartani Hanaa Banjar Nada Alsahan Ibraheem Abosoudah Abdullah Alashwal Wajeeh Aldekhail Sami Alhajjar Sulaiman Al-Mayouf Abdulaziz Alsemari Walaa Alshuaibi Saeed Altala Abdulhadi Altalhi Salah Baz Muddathir Hamad Tariq Abalkhail Badi Alenazi Alya Alkaff Fahad Almohareb Fuad Al Mutairi Mona Alsaleh Abdullah Alsonbul Somaya Alzelaye Shakir Bahzad Abdulaziz Bin Manee Ola Jarrad Neama Meriki Bassem Albeirouti Amal Alqasmi Mohammed AlBalwi Nawal Makhseed Saeed Hassan Isam Salih Mustafa A Salih Marwan Shaheen Saadeh Sermin Shamsad Shahrukh Shahrukh Hashmi Ayman Shawli Ameen Tajuddin Abdullah Tamim Ahmed Alnahari Ibrahim Ghemlas Maged Hussein Sami Wali Hatem Murad Brian F Meyer Fowzan S Alkuraya

Am J Hum Genet 2019 Oct;105(4):879

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http://dx.doi.org/10.1016/j.ajhg.2019.09.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6817532PMC
October 2019

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Authors:
Dorota Monies Mohammed Abouelhoda Mirna Assoum Nabil Moghrabi Rafiullah Rafiullah Naif Almontashiri Mohammed Alowain Hamad Alzaidan Moeen Alsayed Shazia Subhani Edward Cupler Maha Faden Amal Alhashem Alya Qari Aziza Chedrawi Hisham Aldhalaan Wesam Kurdi Sameena Khan Zuhair Rahbeeni Maha Alotaibi Ewa Goljan Hadeel Elbardisy Mohamed ElKalioby Zeeshan Shah Hibah Alruwaili Amal Jaafar Ranad Albar Asma Akilan Hamsa Tayeb Asma Tahir Mohammed Fawzy Mohammed Nasr Shaza Makki Abdullah Alfaifi Hanna Akleh Suad Yamani Dalal Bubshait Mohammed Mahnashi Talal Basha Afaf Alsagheir Musad Abu Khaled Khalid Alsaleem Maisoon Almugbel Manal Badawi Fahad Bashiri Saeed Bohlega Raashida Sulaiman Ehab Tous Syed Ahmed Talal Algoufi Hamoud Al-Mousa Emadia Alaki Susan Alhumaidi Hadeel Alghamdi Malak Alghamdi Ahmed Sahly Shapar Nahrir Ali Al-Ahmari Hisham Alkuraya Ali Almehaidib Mohammed Abanemai Fahad Alsohaibaini Bandar Alsaud Rand Arnaout Ghada M H Abdel-Salam Hasan Aldhekri Suzan AlKhater Khalid Alqadi Essam Alsabban Turki Alshareef Khalid Awartani Hanaa Banjar Nada Alsahan Ibraheem Abosoudah Abdullah Alashwal Wajeeh Aldekhail Sami Alhajjar Sulaiman Al-Mayouf Abdulaziz Alsemari Walaa Alshuaibi Saeed Altala Abdulhadi Altalhi Salah Baz Muddathir Hamad Tariq Abalkhail Badi Alenazi Alya Alkaff Fahad Almohareb Fuad Al Mutairi Mona Alsaleh Abdullah Alsonbul Somaya Alzelaye Shakir Bahzad Abdulaziz Bin Manee Ola Jarrad Neama Meriki Bassem Albeirouti Amal Alqasmi Mohammed AlBalwi Nawal Makhseed Saeed Hassan Isam Salih Mustafa A Salih Marwan Shaheen Saadeh Sermin Shamsad Shahrukh Shahrukh Hashmi Ayman Shawli Ameen Tajuddin Abdullah Tamim Ahmed Alnahari Ibrahim Ghemlas Maged Hussein Sami Wali Hatem Murad Brian F Meyer Fowzan S Alkuraya

Am J Hum Genet 2019 06 23;104(6):1182-1201. Epub 2019 May 23.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 12354, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.04.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562004PMC
June 2019

Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556.

Neurogenetics 2019 05 13;20(2):91-98. Epub 2019 Apr 13.

Institute for Neuroscience, Department of Pharmacology and Physiology, The George Washington University School of Medicine and Health Sciences, Washington, 20037, DC, USA.

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http://dx.doi.org/10.1007/s10048-019-00577-2DOI Listing
May 2019

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Authors:
Dorota Monies Mohamed Abouelhoda Moeenaldeen AlSayed Zuhair Alhassnan Maha Alotaibi Husam Kayyali Mohammed Al-Owain Ayaz Shah Zuhair Rahbeeni Mohammad A Al-Muhaizea Hamad I Alzaidan Edward Cupler Saeed Bohlega Eissa Faqeih Maha Faden Banan Alyounes Dyala Jaroudi Ewa Goljan Hadeel Elbardisy Asma Akilan Renad Albar Hesham Aldhalaan Shamshad Gulab Aziza Chedrawi Bandar K Al Saud Wesam Kurdi Nawal Makhseed Tahani Alqasim Heba Y El Khashab Hamoud Al-Mousa Amal Alhashem Imaduddin Kanaan Talal Algoufi Khalid Alsaleem Talal A Basha Fathiya Al-Murshedi Sameena Khan Adila Al-Kindy Maha Alnemer Sami Al-Hajjar Suad Alyamani Hasan Aldhekri Ali Al-Mehaidib Rand Arnaout Omar Dabbagh Mohammad Shagrani Dieter Broering Maha Tulbah Amal Alqassmi Maisoon Almugbel Mohammed AlQuaiz Abdulaziz Alsaman Khalid Al-Thihli Raashda A Sulaiman Wajeeh Al-Dekhail Abeer Alsaegh Fahad A Bashiri Alya Qari Suzan Alhomadi Hisham Alkuraya Mohammed Alsebayel Muddathir H Hamad Laszlo Szonyi Faisal Abaalkhail Sulaiman M Al-Mayouf Hamad Almojalli Khalid S Alqadi Hussien Elsiesy Taghreed M Shuaib Mohammed Zain Seidahmed Ibraheem Abosoudah Hana Akleh Abdulaziz AlGhonaium Turki M Alkharfy Fuad Al Mutairi Wafa Eyaid Abdullah Alshanbary Farrukh R Sheikh Fahad I Alsohaibani Abdullah Alsonbul Saeed Al Tala Soher Balkhy Randa Bassiouni Ahmed S Alenizi Maged H Hussein Saeed Hassan Mohamed Khalil Brahim Tabarki Saad Alshahwan Amira Oshi Yasser Sabr Saad Alsaadoun Mustafa A Salih Sarar Mohamed Habiba Sultana Abdullah Tamim Moayad El-Haj Saif Alshahrani Dalal K Bubshait Majid Alfadhel Tariq Faquih Mohamed El-Kalioby Shazia Subhani Zeeshan Shah Nabil Moghrabi Brian F Meyer Fowzan S Alkuraya

Hum Genet 2017 08 9;136(8):921-939. Epub 2017 Jun 9.

Deparment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1007/s00439-017-1821-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502059PMC
August 2017

Prevalence of epilepsy in 74,949 school children in Khartoum State, Sudan.

Paediatr Int Child Health 2017 Aug 6;37(3):188-192. Epub 2017 Feb 6.

f Division of Pediatric Neurology, Department of Pediatrics , College of Medicine, King Saud University , Riyadh , Saudi Arabia.

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https://www.tandfonline.com/doi/full/10.1080/20469047.2016.1
Publisher Site
http://dx.doi.org/10.1080/20469047.2016.1278110DOI Listing
August 2017

Idiopathic intracranial hypertension in children: Diagnostic and management approach.

Sudan J Paediatr 2016 ;16(2):67-76

Division of Neurology, Departments of Pediatrics, King Khalid University Hospital, College of Medicine, King Saud University , Riyadh , Saudi Arabia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5237838PMC
January 2016

Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.

Brain 2016 12 14;139(Pt 12):3109-3120. Epub 2016 Oct 14.

1 The Institute of Basic Medical Sciences, Department of Molecular Medicine, University of Oslo, Oslo, Norway

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http://dx.doi.org/10.1093/brain/aww244DOI Listing
December 2016

Acute poisoning in a child following topical treatment of head lice (pediculosis capitis) with an organophosphate pesticide.

Sudan J Paediatr 2016 ;16(1):63-6

Division of Pediatric Neurology, College of Medicine and King Saud University Medical City, King Saud University , Riyadh , Saudi Arabia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5025936PMC
September 2016

Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy.

Am J Med Genet A 2016 08 30;170(8):2219-21. Epub 2016 May 30.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.37768DOI Listing
August 2016

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

Am J Hum Genet 2016 06 26;98(6):1249-1255. Epub 2016 May 26.

Children's Health Research Center, Sanford Research, Sioux Falls, SD 57104, USA; Department of Child Health, University of Arizona College of Medicine, Phoenix, AZ 85004, USA; Neurogenetics Research Program, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Program in Neuroscience, Arizona State University, Tempe, AZ 85287, USA; Pediatric Movement Disorders Center, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908178PMC
June 2016

A null mutation in TNIK defines a novel locus for intellectual disability.

Hum Genet 2016 07 22;135(7):773-8. Epub 2016 Apr 22.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1007/s00439-016-1671-9DOI Listing
July 2016

Duane retraction syndrome in a patient with Duchenne muscular dystrophy.

Ophthalmic Genet 2016 09 5;37(3):276-80. Epub 2016 Feb 5.

a Department of Ophthalmology , College of Medicine, King Saud University , Riyadh , Saudi Arabia.

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http://dx.doi.org/10.3109/13816810.2015.1039139DOI Listing
September 2016

Novel copy number variants and major limb reduction malformation: Report of three cases.

Am J Med Genet A 2016 May 8;170A(5):1245-50. Epub 2016 Jan 8.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.37550DOI Listing
May 2016

Glutaric aciduria type 1 as a cause of dystonic cerebral palsy.

Saudi Med J 2015 Nov;36(11):1354-7

Department of Pediatrics (39), College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia. E-mail.

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http://dx.doi.org/10.15537/smj.2015.11.12132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4673376PMC
November 2015

Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome.

Tremor Other Hyperkinet Mov (N Y) 2015 9;5:306. Epub 2015 Jul 9.

Division of Medical Genetics, Sanford Children's Hospital, Sioux Falls, SD, USA ; Sanford Children's Health Research Center, Sanford Research Sioux Falls, SD, USA ; Sanford Neurogenetics & Neurometabolic Disorders Clinic and Pediatric Movement Disorders Clinic, Division of Pediatric Neurology, Sanford Children's Specialty Clinic Sioux Falls, SD, USA ; Departments of Pediatrics & Neurosciences, Sanford College of Medicine, University of South Dakota, Vermillion, SD, USA ; Department of Chemistry & Biochemistry, South Dakota State University, Brookings, SD, USA ; University of Arizona College of Medicine, Department of Child Health, Phoenix, AZ ; Barrow Neurological Institute and Ronald A. Matricaria Institute for Molecular Medicine, Phoenix Children's Hospital, Phoenix, AZ.

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http://dx.doi.org/10.7916/D8D21WQ0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4502426PMC
July 2015

Cerebral Iron Accumulation Is Not a Major Feature of /SPG35.

Mov Disord Clin Pract 2015 Mar 18;2(1):56-60. Epub 2015 Feb 18.

Institute of Genetics and Cellular and Molecular Biology INSERM U964 CNRS UMR7104 University of Strasbourg Illkirch France.

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http://dx.doi.org/10.1002/mdc3.12118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353525PMC
March 2015

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Cell Rep 2015 Jan 31;10(2):148-61. Epub 2014 Dec 31.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 11442, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2014.12.015DOI Listing
January 2015

Agenesis of the corpus callosum associated with spinal open neural tube defect.

Saudi Med J 2014 Dec;35 Suppl 1:S57-63

Neurosurgery Division, Institute of Surgery, Sheikh Khalifa Medical City, PO Box 51900, Abu Dhabi, United Arab Emirates. E-mail:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4362096PMC
December 2014

Classification, clinical features, and genetics of neural tube defects.

Saudi Med J 2014 Dec;35 Suppl 1:S5-S14

Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, PO Box 2925, Riyadh 11461, Kingdom of Saudi Arabia. E-mail:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4362100PMC
December 2014

Genetic, chromosomal, and syndromic causes of neural tube defects.

Saudi Med J 2014 Dec;35 Suppl 1:S49-56

Department of Pediatrics, Security Forces Hospital, Riyadh 11481, Kingdom of Saudi Arabia. E-mail:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4362101PMC
December 2014

Split cord malformation associated with spinal open neural tube defect.

Saudi Med J 2014 Dec;35 Suppl 1:S44-8

Neurosurgery Division, Institute of Surgery, Sheikh Khalifa Medical City, PO Box 51900, Abu Dhabi, United Arab Emirates. E-mail:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4362105PMC
December 2014

Sirenomelia and severe caudal regression syndrome.

Saudi Med J 2014 Dec;35 Suppl 1:S36-43

Department of Pediatrics, Security Forces Hospital, Riyadh 11481, Kingdom of Saudi Arabia. E-mail:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4362094PMC
December 2014

Neural tube defects. Challenging, yet preventable.

Authors:
Mustafa A Salih

Saudi Med J 2014 Dec;35 Suppl 1:S3-4

Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, PO Box 2925, Riyadh 11461, Kingdom of Saudi Arabia. E-mail:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4362093PMC
December 2014

Epidemiology of neural tube defects.

Saudi Med J 2014 Dec;35 Suppl 1:S29-35

Department of Pediatrics, Security Forces Hospital, Riyadh 11481, Kingdom of Saudi Arabia. E-mail:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4362102PMC
December 2014

Message from the guest editor.

Authors:
Mustafa A Salih

Saudi Med J 2014 Dec;35 Suppl 1:S2

Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, PO Box 2925, Riyadh 11461, Kingdom of Saudi Arabia. E-mail:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4362097PMC
December 2014

Epidemiology, prenatal management, and prevention of neural tube defects.

Saudi Med J 2014 Dec;35 Suppl 1:S15-28

Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, PO Box 2925, Riyadh 11461, Kingdom of Saudi Arabia. E-mail:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4362104PMC
December 2014

Sturge-Weber syndrome: Continued vigilance is needed.

Sudan J Paediatr 2015 ;15(2):63-70

(1) Division of Pediatric Neurology, College of Medicine and King Saud University Medical City, King Saud University , Riyadh , Saudi Arabia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4958665PMC
August 2016

CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis.

Cell Rep 2014 Aug 24;8(3):647-55. Epub 2014 Jul 24.

Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815-6789, USA; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2014.06.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4334362PMC
August 2014

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.

Hum Mol Genet 2014 Nov 11;23(21):5781-92. Epub 2014 Jun 11.

Department of Pharmacology and Physiology and Integrative Systems Biology, The George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA,

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http://dx.doi.org/10.1093/hmg/ddu296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4189906PMC
November 2014

Congenital toxoplasmosis presenting as central diabetes insipidus in an infant: a case report.

BMC Res Notes 2014 Mar 28;7:184. Epub 2014 Mar 28.

Department of Pediatrics (39), College of Medicine, King Saud University, P,O, Box 2925, 11461 Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1186/1756-0500-7-184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3986852PMC
March 2014

Bilateral congenital entropion with cutis laxa.

Pediatr Dermatol 2014 May-Jun;31(3):e82-4. Epub 2014 Feb 11.

Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1111/pde.12255DOI Listing
December 2014

Risk factors for neural tube defects in Riyadh City, Saudi Arabia: Case-control study.

Sudan J Paediatr 2014 ;14(2):49-60

(5) Epidemiology Research Unit, Department of Biostatistics, Epidemiology and Scientific Computing, Research Centre, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. (Currently, WHO Representative, Saudi Arabia).

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4949798PMC
August 2016

C19orf12 mutation leads to a pallido-pyramidal syndrome.

Gene 2014 Mar 17;537(2):352-6. Epub 2013 Dec 17.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.gene.2013.11.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422067PMC
March 2014

A newly recognized autosomal recessive syndrome affecting neurologic function and vision.

Am J Med Genet A 2013 Jun 30;161A(6):1207-13. Epub 2013 Apr 30.

Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.35850DOI Listing
June 2013

Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.

J Med Genet 2013 Jul 25;50(7):425-30. Epub 2013 Apr 25.

Developmental Genetics Unit, King Faisal Specialist Hospital and Research Center, MBC-03 PO BOX 3354, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.1136/jmedgenet-2012-101378DOI Listing
July 2013

Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis.

Hum Mol Genet 2013 Jun 14;22(11):2200-13. Epub 2013 Feb 14.

Department of Genetics, Developmental Genetics Unit.

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http://dx.doi.org/10.1093/hmg/ddt072DOI Listing
June 2013

Preimplantation genetic diagnosis in isolated sulfite oxidase deficiency.

Can J Neurol Sci 2013 Jan;40(1):109-12

Pediatric (Neurology) Department, King Saud University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1017/s0317167100013081DOI Listing
January 2013

A novel syndrome of lethal familial hyperekplexia associated with brain malformation.

BMC Neurol 2012 Oct 27;12:125. Epub 2012 Oct 27.

Division of Pediatric Neurology, Department of Pediatrics (39), College of Medicine, King Saud University, P. O. Box 2925, Riyadh, 11461, Saudi Arabia.

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http://dx.doi.org/10.1186/1471-2377-12-125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3488335PMC
October 2012

Partial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorder.

Ophthalmic Genet 2013 Mar-Jun;34(1-2):90-6. Epub 2012 Sep 6.

Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.3109/13816810.2012.718850DOI Listing
August 2013

Molecular characterization of Joubert syndrome in Saudi Arabia.

Hum Mutat 2012 Oct 11;33(10):1423-8. Epub 2012 Jul 11.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/humu.22134DOI Listing
October 2012

Prominent corneal nerves: a novel sign of lipoid proteinosis.

Br J Ophthalmol 2012 Jul 12;96(7):935-40. Epub 2012 May 12.

Ophthalmology Department, College of Medicine, King Saud University, PO Box 245, Riyadh 11411, Saudi Arabia.

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http://dx.doi.org/10.1136/bjophthalmol-2012-301617DOI Listing
July 2012

Sleep-disordered breathing in children with craniosynostosis.

Sleep Breath 2013 Mar 26;17(1):389-93. Epub 2012 Apr 26.

Department of Pediatrics, King Saud University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1007/s11325-012-0706-2DOI Listing
March 2013

When straight eyes won't move: phenotypic overlap of genetically distinct ocular motility disturbances.

Can J Ophthalmol 2011 Dec;46(6):477-80

Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.jcjo.2011.09.009DOI Listing
December 2011

The neurology of carbonic anhydrase type II deficiency syndrome.

Brain 2011 Dec 26;134(Pt 12):3502-15. Epub 2011 Nov 26.

Department of Ophthalmology and Paediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1093/brain/awr302DOI Listing
December 2011

Congenital disorder of glycosylation IIa: the trouble with diagnosing a dysmorphic inborn error of metabolism.

Am J Med Genet A 2012 Jan 21;158A(1):245-6. Epub 2011 Nov 21.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://doi.wiley.com/10.1002/ajmg.a.34347
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http://dx.doi.org/10.1002/ajmg.a.34347DOI Listing
January 2012

Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome: report of four new cases with renal involvement.

Am J Med Genet A 2011 Jun 12;155A(6):1393-7. Epub 2011 May 12.

Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.33966DOI Listing
June 2011

Acute phase reactants in Sudanese children with severe protein-energy malnutrition.

Sudan J Paediatr 2011 ;11(1):48-59

(3) The Central Laboratory , Uppsalla University , Sweden.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4949782PMC
August 2016

Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia.

J Neuroophthalmol 2011 Mar;31(1):42-7

Department of Pediatrics, College of Medicine, King Saud University, Division of Neurophysiology, Department of Neuroscience, Armed Forces Hospital, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1097/WNO.0b013e3181f50beaDOI Listing
March 2011

A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation.

BMC Med Genet 2010 Sep 21;11:135. Epub 2010 Sep 21.

Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1186/1471-2350-11-135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2946294PMC
September 2010

Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia.

Brain 2010 Aug;133(Pt 8):2439-47

Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/Université de Strasbourg, et Collège de France, 67404 Illkirch, France.

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http://dx.doi.org/10.1093/brain/awq181DOI Listing
August 2010

Spinocerebellar ataxia with axonal neuropathy.

Adv Exp Med Biol 2010 ;685:75-83

Department of Medical Genetics, Provincial Medical Genetics Program, Child and Family Research Institute, Children's and Women's Health Centre of British Columbia, University of British Columbia Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1007/978-1-4419-6448-9_7DOI Listing
August 2010